Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

ABSTRACT: The human genome contains an estimated 100,000 to 300,000 DNA variants that alter an amino acid in an encoded protein. However, our ability to predict which of these variants are functionally significant is limited. We used a bioinformatics approach to define the functional significance of genetic variation in the ABCA1 gene, a cholesterol transporter crucial for the metabolism of high density lipoprotein cholesterol. To predict the functional consequence of each coding single nucleotide polymorphism and mutation in this gene, we calculated a substitution position-specific evolutionary conservation score for each variant, which considers site-specific variation among evolutionarily related proteins. To test the bioinformatics predictions experimentally, we evaluated the biochemical consequ

SUBMITTER: Brunham LR 

PROVIDER: S-EPMC1342637 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature